Bone marrow transplantation reverses metabolic alterations in multiple sulfatase deficiency: a case series.

Background: Multiple sulfatase deficiency (MSD) is an exceptionally rare neurodegenerative disorder due to the absence or deficiency of 17 known cellular sulfatases. The activation of all these cellular sulfatases is dependent on the presence of the formylglycine-generating enzyme, which is encoded by the SUMF1 gene. Disease-causing homozygous or compound heterozygous variants in SUMF1 result in MSD.

Evaluation of the Effect of Pre-bent Z-shaped Titanium Plate on Narrowing of Zygomatic Arch in L-shaped Reduction Malarplasty.

Objective: Pre-bent titanium plates are widely used for internal fixation in L-shaped zygomatic reduction. The aim is to evaluate the effect of pre-bent Z-shaped titanium plate on the narrowing of the zygomatic arch in L-shaped reduction malarplasty.

Methods: Thirty cosmetic female patients were selected and scanned using computed tomography (CT).

Functional Units Analysis of Mandibular Morphology in Patients With Parry-Romberg Syndrome.

Objective: To characterize mandibular morphology in patients with Parry-Romberg syndrome (PRS).

Design: Retrospective study.

Setting: A craniofacial center.

The Treatment of Primary Lymphoepithelioma-Like Carcinoma in the Head and Neck and Nasopharyngeal Carcinoma.

Background: An uncommon cancer, lymphoepithelioma-like carcinoma (LELC) resembles undifferentiated nasopharyngeal carcinoma (NPC) histologically. The aim is mainly to introduce the diagnosis and treatment of LELC and compare it with NPC in our descriptive study.

Methods: A total of 278 patients with NPC and 157 patients with head and neck LELC had their medical records examined in this study.

Mandibular growth following distraction osteogenesis in children with craniofacial microsomia from a skeletal units perspective.

Background: Mandibular growth following distraction osteogenesis (DO) in patients with craniofacial microsomia (CFM) remains unclear. We aimed to investigate both the short- and long-term effects of DO on mandibular growth in children with Pruzansky-Kaban type IIA CFM based on skeletal units.

Materials And Methods: We collected computed tomography data from 15 children with CFM preoperatively(T0), immediately after distractor removal(T1), and 4-6 years after distractor removal(T2).

Experimental Study of Hot-Sphere Anemometer Response in Stratospheric Environment.

Accurate wind speed measurement in low-pressure conditions is crucial for the thermal performance validation and attitude control of stratospheric aircraft. As air density decreases, traditional wind speed measurement systems based on principles such as dynamic pressure, heat transfer, ultrasound, and particle velocimetry face significant challenges when applied in low-pressure environments, often failing to achieve the required measurement accuracy. This paper presents the development of a wind speed simulation system based on a rotation method designed to operate in low-pressure conditions, utilizing a space environment simulation chamber in conjunction with a high-precision turntable.

Transoral Robotic Surgery and Human Papillomavirus Infection: Impact on Oropharyngeal Cancer Prognosis.

The incidence of oropharyngeal cancer (OPC) remains significant, with a rising prevalence of HPV-positive (HPV) cases, underscoring the growing importance of appropriate treatment approaches for this condition. While HPV OPC typically exhibits a more favorable prognosis than HPV-negative (HPV) OPC, certain HPV OPC patients still face adverse outcomes. This study aimed to assess the effectiveness of TORS versus traditional surgery in treating OPC patients and investigate the prognostic implications of specific variants in the HPV genome.

Deciphering the interplay of HPV infection, MHC-II expression, and CXCL13 CD4 T cell activation in oropharyngeal cancer: implications for immunotherapy.

Background: Human papillomavirus (HPV) infection has become an important etiological driver of oropharyngeal squamous cell carcinoma (OPSCC), leading to unique tumor characteristics. However, the interplay between HPV-associated tumor cells and tumor microenvironment (TME) remains an enigma.

Methods: We performed a single-cell RNA-sequencing (scRNA-seq) on HPV-positive (HPV) and HPV-negative (HPV) OPSCC tumors, each for three samples, and one normal tonsil tissue.

A DXd/TLR7-Agonist Dual-Conjugate Anti-HER2 ADC Exerts Robust Antitumor Activity Through Tumor Cell Killing and Immune Activation.

The emergence of trastuzumab deruxtecan (T-DXd), a new-generation antibody-drug conjugate (ADC), has profoundly altered the therapeutic paradigm for HER2-positive solid tumors, demonstrating remarkable clinical benefits. However, the combined outcomes of T-DXd with immunotherapy agents remain ambiguous. In this study, we introduce Tras-DXd-MTL1, an innovative HER2 targeting ADC that integrates the topoisomerase inhibitor DXd and a toll like receptor 7 (TLR7) agonist MTT5, linked to trastuzumab via a GGFG tetrapeptide linker.

Correction: Novel aerosol treatment of airway hyper-reactivity and inflammation in a murine model of asthma with a soluble epoxide hydrolase inhibitor.

[This corrects the article DOI: 10.1371/journal.pone.

Evaluation of post-activation mandibular remodelling in children with craniofacial microsomia treated with distraction osteogenesis.

Objective: Patients with type IIA craniofacial microsomia (CFM) may benefit from mandibular distraction osteogenesis (MDO) treatment during childhood; however, remodelling of the mandible during the consolidation phase, which may affect the short-term outcomes of MDO, has not yet been quantitatively analysed using computed tomography. Therefore, we aimed to investigate bone remodelling of the mandible in children with type IIA CFM treated with MDO before distractor removal and the factors that influence ramus vertical elongation efficiency.

Materials And Methods: Twenty-three children with unilateral CFM were studied between 2020 and 2024.

Loss-of-function mutation in DDX53 associated with hereditary spastic paraplegia-like disorder.

DEAD-box helicase 53 (DDX53) is a member of the DEAD-box protein family of RNA helicases. Unlike other family members that are responsible for RNA metabolism, the biological function of DDX53 and its impact on the human condition are unclear. Herein, we found a full-length DDX53 deletion mutation in a hereditary spastic paraplegia-like (HSP-like) patient with lower extremity spasticity, walking disorder, visual impairment, and lateral ventricular white matter lesions.

Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods.

Background: Clinicians traditionally aim to identify a singular explanation for the clinical presentation of a patient; however, in some cases, the diagnosis may remain elusive or fail to comprehensively explain the clinical findings. In recent years, advancements in next-generation sequencing, including whole-exome sequencing, have led to the incidental identification of dual diagnoses in patients. Herein we present the cases of five pediatric patients diagnosed with dual rare genetic diseases.

High-resolution chemical imaging to understand Cd activation in rice rhizosphere of karstic soils.

Cadmium (Cd) activation, especially at a high spatial resolution, in paddy soils with a high geogenic Cd background is yet to be understood. To investigate the temporal and spatial patterns of Cd activation in rice rhizosphere, pot and rhizotron experiments were conducted using four paddy soils with high geogenic Cd (0.11-3.

Multi-imaging platform for rhizosphere studies: Phosphorus and oxygen fluxes.

Rhizosphere is a soil volume of high spatio-temporal heterogeneity and intensive plant-soil-microbial interactions, for which visualization and process quantification is of highest scientific and applied relevance, but still very challenging. A novel methodology for quick assessment of two-dimensional distribution of available phosphorus (P) in rhizosphere was suggested, tested, and development up to the application platform. Available P was firstly trapped by an in-situ diffusive gradients in thin-films (DGT) sampler with precipitated zirconia as the binding gel, and subsequently, the loaded gel was analyzed with an optimized colorimetric imaging densitometry (CID).

Modified staging system of positive lymph nodes based nomogram in intrahepatic cholangiocarcinoma.

Background: Intrahepatic cholangiocarcinoma (iCCA) presents the similar trend and prevalence of lymph node metastasis to other biliary tract cancer. There is still a necessity and possibility for the current classification of lymph node in the 8th TNM of iCCA, which is the same as the criteria of hepatoma carcinoma (HCC), to further improve the prognostic capacity. We aim to explore the optimal positive lymph nodes cutoff value that could predict the survival outcomes of patients with iCCA and further establish a prognostic nomogram.

Impact of Nosocomial Infection on in-Hospital Mortality Rate in Adult Patients Under Venoarterial Extracorporeal Membrane Oxygenation After Cardiac Surgery.

Objective: There was no consensus on the impact of nosocomial infection on In-hospital mortality rate in patients receiving ECMO. This study aimed to investigate the impact of nosocomial infection (NI) on In-hospital mortality rate in adult patients receiving venoarterial extracorporeal membrane oxygenation (VA-ECMO) after cardiac surgery.

Materials And Methods: This retrospective study included 503 adult patients who underwent VA-ECMO after cardiac surgery.

Treatment outcomes of mucosal melanoma of the head and neck: Analysis of 190 cases from a single institution.

Objectives: To analyze the treatment outcomes and prognostic factors of mucosal melanoma of the head and neck (MMHN) from a single institution.

Methods: From December 1989 to November 2018, 190 patients diagnosed with MMHN were included. Survival analysis was performed using the Kaplan-Meier method for univariate analysis with a log-rank test for significance and Cox regression for multivariate analysis.

Fine-tuning Bacterial Cyclic di-AMP Production for Durable Antitumor Effects Through the Activation of the STING Pathway.

The stimulator of interferon genes (STING) protein is an important and promising innate immune target for tumor therapy. However, the instability of the agonists of STING and their tendency to cause systemic immune activation is a hurdle. The STING activator, cyclic di-adenosine monophosphate (CDA), produced by the modified Nissle 1917, shows high antitumor activity and effectively reduces the systemic effects of the "off-target" caused by the activation of the STING pathway.

Bone Density of the Condyle of Children with Craniofacial Microsomia and its Correlation with Condylar Resorption After Mandible Distraction Osteogenesis.

Objective: To investigate condylar bone density (BD) in children with craniofacial microsomia (CFM) and identify factors that contribute to early stage condylar resorption (CR) after mandibular distraction osteogenesis (MDO).

Design: Retrospective study.

Setting: Craniofacial department of a plastic surgery hospital.

Morphologic Changes of the Temporomandibular Joint in Pruzansky-Kaban Type IIa Hemifacial Microsomia Postmandibular Distraction Osteogenesis.

Objective: Mandibular distraction osteogenesis (MDO) is a powerful tool for the correction of hemifacial microsomia (HFM). The temporomandibular joint (TMJ) is the focus of attention in the diagnosis and treatment of HFM. This observational retrospective cross-sectional study aimed to investigate morphologic changes in TMJ post-MDO in type IIa HFM.

Synthesis of hierarchically structured FeC/CNTs composites in a FeNC matrix for use as efficient ORR electrocatalysts.

Fe-N-C has a high number of FeN active sites and has thus been regarded as a high-performance oxygen reduction reaction (ORR) catalyst, and combining FeC with Fe-N-C typically boosts ORR activity. However, the catalytic mechanism remains unknown, limiting further research and development. In this study, a precipitation-solvothermal process was used in conjunction with pyrolysis to produce a series of Fe-N-C catalysts derived from a zeolitic imidazolate framework (ZIF) that was composited with FeC.